Family Heart Foundation Research: HoFH and Children

New Research – Children and HOFH

Family Heart Foundation Study Shows Some Children With Homozygous Familial Hypercholesterolemia Miss Out On Decades Of Life-Saving Treatment

Only Children with the Most Severe HoFH are Diagnosed Before Adulthood, Putting those Not Identified Early at Risk for Heart Disease at a Young Age


New analysis from the Family Heart Foundation’s CASCADE FH® Registry shows that some children with homozygous familial hypercholesterolemia (HoFH) are going undiagnosed. This leaves them at higher risk for very early heart disease.

The findings were presented in a poster titled, “Characterization of Children with Homozygous Familial Hypercholesterolemia from the CASCADE FH Registry,” at the American Academy of Pediatrics (AAP) National Conference & Exhibition from Oct. 7-11 in Anaheim, Calif.


The research shows that children with severe HoFH are diagnosed earlier, but they have much higher LDL levels than adults with HoFH. The data raises the possibility that only children with the most severe cases of HoFH are diagnosed early. As a result, others who have HoFH but may have lower LDL are not identified early and miss out on decades of life-saving treatment.


HoFH is a rare genetic condition that causes extremely high levels of LDL in both children and adults. People with HoFH are at risk of premature atherosclerotic cardiovascular disease (ASCVD) as early as the first decade of life.


Many children don’t have physical symptoms of HoFH, and the only way to determine whether they have it is to do a lipid panel or genetic testing.


“Parents and their family doctors should be aware of their family’s health history and proactively screening at a younger age for HoFH if they are at risk. These findings and recent improvement in lipid lowering therapies make a compelling case for rigorous compliance with AAP’s guidelines on lipid screening for children with a genetic risk of FH or ASCVD at age 2,” said Mary P. McGowan, M.D., chief medical officer, Family Heart Foundation, and study co-author. “This should be followed by cascade family screening. Unfortunately, even routine screening between ages 9 and 11 as recommended by the AAP is not the standard in the United States. There is a clear need to implement universal screening so that all children with HoFH and the less severe heterozygous familial hypercholesterolemia (HeFH) are consistently identified.”


The study included a total of 67 HoFH patients in the CASCADE FH Registry, a multi-site patient registry created in 2013 by the Family Heart Foundation that tracks the characteristics, treatment patterns, and clinical events in familial hypercholesterolemia (FH) patients in the U.S. This would not be possible without the families who participate in the registry as an important longitudinal study of all forms of FH. We are so grateful for those in our community who choose to provide us with this invaluable data.


Data from the registry documents the severe cardiac risk associated with HoFH in children and found:
  • At time of enrollment into the CASCADE FH Registry, nearly 19% and 44% of the children had evidence of aortic valve stenosis and cardiac disease, respectively
  • Findings showed that the median age for developing cardiac disease was 8.9 years
  • The earliest reported diagnosis of cardiac disease occurred at ages 2 and 3 years in children who underwent curative liver transplants at 4 and 8 years respectively.
  • Two children underwent coronary artery bypass grafting at ages 4 and 8 respectively.


The Family Heart Foundation is deeply committed to documenting the risks associated with HoFH and the importance of early diagnosis and treatment of this life-threatening genetic disorder. The CASCADE FH Registry is the only longitudinal database in the United States dedicated to the health and welfare of individuals living with both HoFH and the more common heterozygous FH (HeFH).


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